Canonical Allele Identifier: CA4340949

Gene: PEX1 GATAD1

Linked Data

• ClinVar Variation Id: 911570
• ClinVar RCV Id: RCV001164103 ; RCV001356761 ; RCV001312915 ; RCV002559573
• dbSNP Id: rs202057449
• ExAC: 7:92123683 C / T
• gnomAD v2: 7-92123683-C-T
• gnomAD v3: 7-92494369-C-T
• gnomAD v4: 7-92494369-C-T
• COSMIC: COSM3431859
• MyVariant Identifiers: chr7:g.92123683C>T (hg19) ; chr7:g.92494369C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92494369C>T , CM000669.2:g.92494369C>T	GRCh38
NC_000007.13:g.92123683C>T , CM000669.1:g.92123683C>T	GRCh37
NC_000007.12:g.91961619C>T	NCBI36
NG_008341.1:g.39163G>A
NG_008341.2:g.39163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2954G>A (PEX1) MANE Select	ENSP00000248633.4:p.Arg985His
ENST00000248633.8:c.2954G>A (PEX1)	ENSP00000248633.4:p.Arg985His
ENST00000428214.5:c.2783G>A (PEX1)	ENSP00000394413.1:p.Arg928His
ENST00000438045.5:c.1988G>A (PEX1)	ENSP00000410438.1:p.Arg663His
ENST00000484913.5:n.2993G>A (PEX1)
ENST00000496420.5:n.2846G>A (PEX1)
NM_000466.2:c.2954G>A (PEX1)	NP_000457.1:p.Arg985His
NM_001282677.1:c.2783G>A (PEX1)	NP_001269606.1:p.Arg928His
NM_001282678.1:c.2330G>A (PEX1)	NP_001269607.1:p.Arg777His
XM_005250433.3:c.1205G>A (PEX1)	XP_005250490.1:p.Arg402His
XR_242246.3:n.3050G>A (PEX1)
XM_017012319.2:c.1205G>A (PEX1)	XP_016867808.1:p.Arg402His
XR_001744808.2:n.1981G>A (PEX1)
XR_001744843.2:n.5338C>T (GATAD1)
XR_242246.5:n.3001G>A (PEX1)
XR_927494.3:n.4189C>T (GATAD1)
XR_927503.3:n.4120C>T (GATAD1)
NM_000466.3:c.2954G>A (PEX1) MANE Select	NP_000457.1:p.Arg985His
NM_001282677.2:c.2783G>A (PEX1)	NP_001269606.1:p.Arg928His
NM_001282678.2:c.2330G>A (PEX1)	NP_001269607.1:p.Arg777His